Variant: rs1057517954 

    present in Gene: ABCD1;BCAP31
    present in Chromosome: X
    Position on Chromosome: 153725754
    Alleles of this Variant: G/A

rs1057517954 in ABCD1;BCAP31 gene and Adrenoleukodystrophy PMID 10980309 2000 Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation.

PMID 25324868 2014 A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.

PMID 26227820 2016 Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.

PMID 22071894 2012 Clinical utility gene card for: adrenoleukodystrophy.

PMID 7825602 1995 Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.